UniProt functional annotation for Q96FE5



	UniProt functional annotation for Q96FE5

UniProt code: Q96FE5.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors (PubMed:14966521, PubMed:15694321). Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination (PubMed:15895088). Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity). {ECO:0000250|UniProtKB:Q9D1T0, ECO:0000269|PubMed:14966521, ECO:0000269|PubMed:15694321, ECO:0000269|PubMed:15895088}.

Subunit: Homotetramer (PubMed:17005555). Forms a ternary complex with RTN4R/NGFR and RTN4R/TNFRSF19 (PubMed:14966521, PubMed:15694321, PubMed:17005555). Interacts with NGRF and MYT1L (By similarity). Interacts with RTN4R (PubMed:19052207). {ECO:0000250|UniProtKB:Q9D1T0, ECO:0000269|PubMed:14966521, ECO:0000269|PubMed:15694321, ECO:0000269|PubMed:17005555, ECO:0000269|PubMed:19052207}.

Subcellular location: Cell membrane {ECO:0000250|UniProtKB:Q9D1T0}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q9D1T0}.

Tissue specificity: Expressed exclusively in the central nervous system. Highest level in the in amygdala, hippocampus, thalamus and cerebral cortex. In the rest of the brain a basal expression seems to be always present. Up-regulated in substantia nigra neurons from Parkinson disease patients. {ECO:0000269|PubMed:14686891, ECO:0000269|PubMed:15895088, ECO:0000269|PubMed:17726113}.

Domain: The intracellular domain of LINGO1 interacts with MYT1L. {ECO:0000250|UniProtKB:Q9D1T0}.

Ptm: N-glycosylated. Contains predominantly high-mannose glycans. {ECO:0000269|PubMed:17005555}.

Disease: Mental retardation, autosomal recessive 64 (MRT64) [MIM:618103]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech. {ECO:0000269|PubMed:28837161}. Note=The disease is caused by variants affecting the gene represented in this entry.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors (PubMed:14966521, PubMed:15694321). Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination (PubMed:15895088). Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity). {ECO:0000250\|UniProtKB:Q9D1T0, ECO:0000269\|PubMed:14966521, ECO:0000269\|PubMed:15694321, ECO:0000269\|PubMed:15895088}.


Subunit:		Homotetramer (PubMed:17005555). Forms a ternary complex with RTN4R/NGFR and RTN4R/TNFRSF19 (PubMed:14966521, PubMed:15694321, PubMed:17005555). Interacts with NGRF and MYT1L (By similarity). Interacts with RTN4R (PubMed:19052207). {ECO:0000250\|UniProtKB:Q9D1T0, ECO:0000269\|PubMed:14966521, ECO:0000269\|PubMed:15694321, ECO:0000269\|PubMed:17005555, ECO:0000269\|PubMed:19052207}.
Subcellular location:		Cell membrane {ECO:0000250\|UniProtKB:Q9D1T0}; Single-pass type I membrane protein {ECO:0000250\|UniProtKB:Q9D1T0}.
Tissue specificity:		Expressed exclusively in the central nervous system. Highest level in the in amygdala, hippocampus, thalamus and cerebral cortex. In the rest of the brain a basal expression seems to be always present. Up-regulated in substantia nigra neurons from Parkinson disease patients. {ECO:0000269\|PubMed:14686891, ECO:0000269\|PubMed:15895088, ECO:0000269\|PubMed:17726113}.
Domain:		The intracellular domain of LINGO1 interacts with MYT1L. {ECO:0000250\|UniProtKB:Q9D1T0}.
Ptm:		N-glycosylated. Contains predominantly high-mannose glycans. {ECO:0000269\|PubMed:17005555}.
Disease:		Mental retardation, autosomal recessive 64 (MRT64) [MIM:618103]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech. {ECO:0000269\|PubMed:28837161}. Note=The disease is caused by variants affecting the gene represented in this entry.